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Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory

European journal of medical genetics, 2023-11, Vol.66 (11), p.104847-104847, Article 104847

2023

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Defects in phospholipase C zeta cause polyspermy and low fertilization after conventional IVF: not just ICSI failure

Asian journal of andrology, 2024-03, Vol.26 (2), p.175-182

2024

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Galactokinase deficiency: lessons from the GalNet registry

Genetics in medicine, 2021-01, Vol.23 (1), p.202-210

2021

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Cystic fibrosis in Iceland and the high prevalence of the N1303K variant

Pediatric pulmonology, 2024-07, Vol.59 (7), p.1944-1951

2024

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Development and validation of a novel nomogram to predict the impact of the polymorphism of the ICAM‐1 gene on the prognosis of ischemic cardiomyopathy

Clinical genetics, 2023-09, Vol.104 (3), p.313-323

2023

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Energy Homeostasis Gene Nucleotide Variants and Survival of Hemodialysis Patients—A Genetic Cohort Study

Journal of clinical medicine, 2022-09, Vol.11 (18), p.5477

2022

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Sucrase‐isomaltase Gene Variants in Patients With Abnormal Sucrase Activity and Functional Gastrointestinal Disorders

Journal of pediatric gastroenterology and nutrition, 2021-01, Vol.72 (1), p.29-35

2021

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Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy

Genes, 2023-01, Vol.14 (1), p.214

2023

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Association of genetic variants of the Fat Mass and Obesity (FTO) gene and obesity in children

Portuguese journal of pediatrics (Online), 2024-04, Vol.55 (2)

2024

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Association between MTHFR c.677C>T variant and erectile dysfunction among males attending fertility clinic

Asian journal of andrology, 2024, Vol.26 (1), p.41-45

2024

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The association between variants in the CFTR gene and nonobstructive male infertility: A meta‐analysis

Andrologia, 2020-03, Vol.52 (2), p.e13475-n/a

2020

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Zielgerichtete Therapien in der gastrointestinalen Onkologie

Deutsche medizinische Wochenschrift, 2023-10, Vol.149 (8), p.440-446

Lange, Sebastian

2023

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The association between HTR1B gene rs13212041 polymorphism and onset of alcohol abuse

Neuropsychiatric disease and treatment, 2019-01, Vol.15, p.339-347

2019

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Impacts of gene variants on drug effects-the foundation of genotype-guided pharmacologic therapy for long QT syndrome and short QT syndrome

EBioMedicine, 2024-05, Vol.103, p.105108-105108, Article 105108

2024

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Evaluating the causality of novel sequence variants in the prion protein gene by example

Neurobiology of aging, 2018-11, Vol.71, p.265.e1-265.e7

2018

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Vitamin D Receptor and Binding Protein Gene Variants in Patients with Essential Tremor

Molecular neurobiology, 2022-06, Vol.59 (6), p.3458-3466

2022

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Possible synergistic effect of apoE and LRP1 genotypes on metabolic syndrome development in Serbian patients

Molecular biology reports, 2019-12, Vol.46 (6), p.6345-6351

2019

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Gene variants associated with antisocial behaviour: a latent variable approach

Journal of child psychology and psychiatry, 2013-10, Vol.54 (10), p.1074-1085

2013

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Is there any association between rs1303 (PiM3) variant of alpha‐1 antitrypsin gene and atrial septal aneurysm development?

Journal of cardiac surgery, 2019-11, Vol.34 (11), p.1215-1219

2019

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Epistasis Between Two Gene Variants of Leptin and Vascular Endothelial Growth Factor Genes in the Development of Primary Knee Osteoarthritis

Revista de investigacion clinica, 2022-03, Vol.74 (2), p.081-089

2022

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Male awareness of prostate cancer risk remains poor in relatives of women with germline variants in DNA‐repair genes

BJUI compass, 2023-11, Vol.4 (6), p.738-745

2023

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Identification of RHCE and KEL alleles in large cohorts of Afro‐Caribbean and Comorian donors by multiplex SNaPshot and fragment assays: a transfusion support for sickle cell disease patients

British journal of haematology, 2011-07, Vol.154 (2), p.260-270

2011

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Association of BCR/ABL transcript variants with different blood parameters and demographic features in Iraqi chronic myeloid leukemia patients

Molecular genetics & genomic medicine, 2019-08, Vol.7 (8), p.e809-n/a

2019

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Investigation of relationship between IL-6 gene variants and hypertension in Turkish population

Cytotechnology (Dordrecht), 2015-12, Vol.67 (6), p.947-954

2015

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Maternal Haplotypes in DHFR Promoter and MTHFR Gene in Tuning Childhood Acute Lymphoblastic Leukemia Onset-Latency: Genetic/Epigenetic Mother/Child Dyad Study (GEMCDS)

Genes, 2019-08, Vol.10 (9), p.634

2019

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Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory

Defects in phospholipase C zeta cause polyspermy and low fertilization after conventional IVF: not just ICSI failure

Galactokinase deficiency: lessons from the GalNet registry

Cystic fibrosis in Iceland and the high prevalence of the N1303K variant

Development and validation of a novel nomogram to predict the impact of the polymorphism of the ICAM‐1 gene on the prognosis of ischemic cardiomyopathy

Energy Homeostasis Gene Nucleotide Variants and Survival of Hemodialysis Patients—A Genetic Cohort Study

Sucrase‐isomaltase Gene Variants in Patients With Abnormal Sucrase Activity and Functional Gastrointestinal Disorders

Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy

Association of genetic variants of the Fat Mass and Obesity (FTO) gene and obesity in children

Association between MTHFR c.677C>T variant and erectile dysfunction among males attending fertility clinic

The association between variants in the CFTR gene and nonobstructive male infertility: A meta‐analysis

Zielgerichtete Therapien in der gastrointestinalen Onkologie

The association between HTR1B gene rs13212041 polymorphism and onset of alcohol abuse

Impacts of gene variants on drug effects-the foundation of genotype-guided pharmacologic therapy for long QT syndrome and short QT syndrome

Evaluating the causality of novel sequence variants in the prion protein gene by example

Vitamin D Receptor and Binding Protein Gene Variants in Patients with Essential Tremor

Possible synergistic effect of apoE and LRP1 genotypes on metabolic syndrome development in Serbian patients

Gene variants associated with antisocial behaviour: a latent variable approach

Is there any association between rs1303 (PiM3) variant of alpha‐1 antitrypsin gene and atrial septal aneurysm development?

Epistasis Between Two Gene Variants of Leptin and Vascular Endothelial Growth Factor Genes in the Development of Primary Knee Osteoarthritis

Male awareness of prostate cancer risk remains poor in relatives of women with germline variants in DNA‐repair genes

Identification of RHCE and KEL alleles in large cohorts of Afro‐Caribbean and Comorian donors by multiplex SNaPshot and fragment assays: a transfusion support for sickle cell disease patients

Association of BCR/ABL transcript variants with different blood parameters and demographic features in Iraqi chronic myeloid leukemia patients

Investigation of relationship between IL-6 gene variants and hypertension in Turkish population

Maternal Haplotypes in DHFR Promoter and MTHFR Gene in Tuning Childhood Acute Lymphoblastic Leukemia Onset-Latency: Genetic/Epigenetic Mother/Child Dyad Study (GEMCDS)

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